Current clinical practices focus on a small number of biochemical directly related to the
pathophysiology with patients and thus only describe a very limited metabolome of a patient …

Inborn errors of metabolism (IEM) represent a group of about 500 rare genetic diseases with
an overall estimated incidence of 1/2500. The diversity of metabolic pathways involved …

The implementation of whole-exome sequencing in clinical diagnostics has generated a
need for functional evaluation of genetic variants. In the field of inborn errors of metabolism …

Mitochondrial disorders are monogenic disorders characterized by a defect in oxidative
phosphorylation and caused by pathogenic variants in one of over 340 different genes. The …

Mitochondrial disease (MD) diagnostics and disease progression investigations have
traditionally relied very little on metabolic data, due to a lack of biomarker sensitivity and …

In metabolic diagnostics, there is an emerging need for a comprehensive test to acquire a
complete view of metabolite status. Here, we describe a non-quantitative direct-infusion high …

Introduction Oxygen is essential for metabolic processes and in the absence thereof
alternative metabolic pathways are required for energy production, as seen in marine …

Many inborn errors of metabolism (IEMs) are amenable to treatment; therefore, early
diagnosis and treatment is imperative. Despite recent advances, the genetic basis of many …

Methods Data for this review was identified through a literature search using PubMed,
Google Scholar, and personal repositories of articles collected by the authors. Findings are …

Despite numerous research efforts to control tuberculosis, it is still regarded as a global
pandemic. It is clear that the infectious agent responsible and its associated disease …